Canonical Allele Identifier: CA379802910

Gene: USH1C

Linked Data

• dbSNP Id: rs1356054172
• gnomAD v2: 11-17522606-T-G
• gnomAD v4: 11-17501059-T-G
• MyVariant Identifiers: chr11:g.17522606T>G (hg19) ; chr11:g.17501059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501059T>G , CM000673.2:g.17501059T>G	GRCh38
NC_000011.9:g.17522606T>G , CM000673.1:g.17522606T>G	GRCh37
NC_000011.8:g.17479182T>G	NCBI36
NG_011883.1:g.48358A>C
NG_011883.2:g.48358A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2372A>C MANE Select	ENSP00000005226.7:p.Glu791Ala
ENST00000318024.9:c.1472A>C MANE Plus Clinical	ENSP00000317018.4:p.Glu491Ala
ENST00000005226.11:c.2372A>C	ENSP00000005226.7:p.Glu791Ala
ENST00000318024.8:c.1472A>C	ENSP00000317018.4:p.Glu491Ala
ENST00000526313.5:c.*186A>C	ENSP00000432236.1:n.*186A>C
ENST00000527020.5:c.1415A>C	ENSP00000436934.1:p.Glu472Ala
ENST00000527720.5:c.1379A>C	ENSP00000432944.1:p.Glu460Ala
ENST00000529563.5:n.356A>C
NM_001297764.1:c.1415A>C	NP_001284693.1:p.Glu472Ala
NM_005709.3:c.1472A>C	NP_005700.2:p.Glu491Ala
NM_153676.3:c.2372A>C	NP_710142.1:p.Glu791Ala
NR_123738.1:n.1507A>C
XM_011519831.1:c.2396A>C	XP_011518133.1:p.Glu799Ala
XM_011519832.1:c.1625A>C	XP_011518134.1:p.Glu542Ala
XM_011519833.1:c.*79A>C	XP_011518135.1:n.*79A>C
XR_930841.1:n.1843A>C
XR_930842.1:n.1784A>C
XM_011519832.3:c.1625A>C	XP_011518134.1:p.Glu542Ala
XM_017017075.1:c.2372A>C	XP_016872564.1:p.Glu791Ala
XR_001747717.2:n.1631A>C
NM_153676.4:c.2372A>C MANE Select	NP_710142.1:p.Glu791Ala
NM_001297764.2:c.1415A>C	NP_001284693.1:p.Glu472Ala
NM_005709.4:c.1472A>C MANE Plus Clinical	NP_005700.2:p.Glu491Ala
NR_123738.2:n.1507A>C